-
2
-
-
0022234276
-
Lethal neonatal chondrodysplasias in the west of Scotland 1970-1983 with a description of a thanatophoric, dysplasia like, autosomal recessive disorder, Glasgow variant
-
Connor JM, Connor RAC, Sweet EM, Gibson AAM, Patrick WJA, McNay MB, Redford DHA. 1985. Lethal neonatal chondrodysplasias in the west of Scotland 1970-1983 with a description of a thanatophoric, dysplasia like, autosomal recessive disorder, Glasgow variant. Am J Med Genet 22:243-253.
-
(1985)
Am J Med Genet
, vol.22
, pp. 243-253
-
-
Connor, J.M.1
Connor, R.A.C.2
Sweet, E.M.3
Gibson, A.A.M.4
Patrick, W.J.A.5
McNay, M.B.6
Redford, D.H.A.7
-
3
-
-
0029072162
-
Association of kyphomelic dysplasia with severe combined immunodeficiency
-
Corder WT, Hummel M, Miller C, Wilson NW. 1995. Association of kyphomelic dysplasia with severe combined immunodeficiency. Am J Med Genet 57:626-629.
-
(1995)
Am J Med Genet
, vol.57
, pp. 626-629
-
-
Corder, W.T.1
Hummel, M.2
Miller, C.3
Wilson, N.W.4
-
4
-
-
0032580788
-
Clinical homogeneity of the Stuve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2
-
Cormier-Daire V, Superti-Furga A, Munnich A, Lyonnet S, Rustin P, Delezoide AL, De Lonlay P, Giedion A, Maroteaux P, Le Merrer M. 1998. Clinical homogeneity of the Stuve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. Am J Med Genet 78:146-149.
-
(1998)
Am J Med Genet
, vol.78
, pp. 146-149
-
-
Cormier-Daire, V.1
Superti-Furga, A.2
Munnich, A.3
Lyonnet, S.4
Rustin, P.5
Delezoide, A.L.6
De Lonlay, P.7
Giedion, A.8
Maroteaux, P.9
Le Merrer, M.10
-
6
-
-
0037110974
-
International nosology and classification of constitutional disorders of bone, 2001
-
Hall CM, The international nomenclature Group on Constitutional Disorders of Bone. 2002. International nosology and classification of constitutional disorders of bone, 2001. Am J Med Genet 113:65-77.
-
(2002)
Am J Med Genet
, vol.113
, pp. 65-77
-
-
Hall, C.M.1
-
7
-
-
0018361564
-
Familial congenital bowing with short bones
-
Hall BD, Spranger JW. 1979. Familial congenital bowing with short bones. Radiology 132:611-614.
-
(1979)
Radiology
, vol.132
, pp. 611-614
-
-
Hall, B.D.1
Spranger, J.W.2
-
8
-
-
0017125928
-
Heterogeneity in the camptomelic syndromes. Long and short bone varieties
-
Khajavi A, Lachman R, Rimoin D, Schmike N, Dorst J, Handemaker S, Ebbi A, Pereault G. 1976. Heterogeneity in the camptomelic syndromes. Long and short bone varieties. Radiology 120:641-647.
-
(1976)
Radiology
, vol.120
, pp. 641-647
-
-
Khajavi, A.1
Lachman, R.2
Rimoin, D.3
Schmike, N.4
Dorst, J.5
Handemaker, S.6
Ebbi, A.7
Pereault, G.8
-
9
-
-
0026094520
-
Cartilage hair hypoplasia in infancy: A misleading chondrodysplasia
-
Le Merrer M, Maroteaux P. 1991. Cartilage hair hypoplasia in infancy: A misleading chondrodysplasia. Eur J Pediat 150:847-851.
-
(1991)
Eur J Pediat
, vol.150
, pp. 847-851
-
-
Le Merrer, M.1
Maroteaux, P.2
-
10
-
-
0020661609
-
Skeletal dysplasia with short, angulated femora (kyphomelic dysplasia)
-
Maclean RN, Prater WK, Lozzio CB. 1983. Skeletal dysplasia with short, angulated femora (kyphomelic dysplasia). Am J Med Genet 14:373-380.
-
(1983)
Am J Med Genet
, vol.14
, pp. 373-380
-
-
Maclean, R.N.1
Prater, W.K.2
Lozzio, C.B.3
-
11
-
-
0023938251
-
Recessive lethal chondrodysplasia "round femoral inferior epiphysis type"
-
Maroteaux P, Stanescu R, Stanescu V, Cousin J. 1988. Recessive lethal chondrodysplasia "round femoral inferior epiphysis type." Eur J Pediatr 147:408-411.
-
(1988)
Eur J Pediatr
, vol.147
, pp. 408-411
-
-
Maroteaux, P.1
Stanescu, R.2
Stanescu, V.3
Cousin, J.4
-
12
-
-
76549193287
-
Dwarfism in the amish. II. Cartilage-hair hypoplasia
-
McKusick VA, Eldridge R, Hostetler JA, Egeland JA, Ruangwit U. 1965. Dwarfism in the amish. II. Cartilage-hair hypoplasia. Bull Johns Hopkins Hosp 116:285-326.
-
(1965)
Bull Johns Hopkins Hosp
, vol.116
, pp. 285-326
-
-
McKusick, V.A.1
Eldridge, R.2
Hostetler, J.A.3
Egeland, J.A.4
Ruangwit, U.5
-
14
-
-
0032843653
-
Kyphomelic dysplasia: Clinical and radiologic long-term follow-up of one case and review of the literature
-
Pallotta R, Ehresman T, Roggini MM, Fusilli P. 1999. Kyphomelic dysplasia: Clinical and radiologic long-term follow-up of one case and review of the literature. Radiology 212:847-852.
-
(1999)
Radiology
, vol.212
, pp. 847-852
-
-
Pallotta, R.1
Ehresman, T.2
Roggini, M.M.3
Fusilli, P.4
-
15
-
-
0021258772
-
Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity: Report of the clinical and radiological findings in two siblings
-
Rezza E, Iannaccone G, Lendvai D. 1984. Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity: Report of the clinical and radiological findings in two siblings. Pediatr Radiol 14:323-327.
-
(1984)
Pediatr Radiol
, vol.14
, pp. 323-327
-
-
Rezza, E.1
Iannaccone, G.2
Lendvai, D.3
-
16
-
-
17744393618
-
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia
-
Ridanpaa M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, vanVenrooij W, Pruijn G, Salmela R, Rockas S, Makitie O, Kaitila I, de la Chapelle A. 2001. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell 104:195-203.
-
(2001)
Cell
, vol.104
, pp. 195-203
-
-
Ridanpaa, M.1
Van Eenennaam, H.2
Pelin, K.3
Chadwick, R.4
Johnson, C.5
Yuan, B.6
VanVenrooij, W.7
Pruijn, G.8
Salmela, R.9
Rockas, S.10
Makitie, O.11
Kaitila, I.12
De la Chapelle, A.13
-
17
-
-
0034597369
-
Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease
-
Spranger J, Hall BD, Hane B, Srivastava A, Stevenson RE. 2000. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease. Am J Med Genet 94:287-295.
-
(2000)
Am J Med Genet
, vol.94
, pp. 287-295
-
-
Spranger, J.1
Hall, B.D.2
Hane, B.3
Srivastava, A.4
Stevenson, R.E.5
-
18
-
-
0032581120
-
Schwartz-Jampel syndrome type 2 and Stuve-Wiedemann syndrome: A case for "lumping"
-
Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, Giedion A. 1998. Schwartz-Jampel syndrome type 2 and Stuve-Wiedemann syndrome: A case for "lumping." Am J Med Genet 78:150-154.
-
(1998)
Am J Med Genet
, vol.78
, pp. 150-154
-
-
Superti-Furga, A.1
Tenconi, R.2
Clementi, M.3
Eich, G.4
Steinmann, B.5
Boltshauser, E.6
Giedion, A.7
-
19
-
-
0024346046
-
Kyphomelic dysplasia
-
Temple IK, Thompson EM, Hall CM, Bridgeman G, Pembrey ME. 1989. Kyphomelic dysplasia. J Med Genet 26:457-468.
-
(1989)
J Med Genet
, vol.26
, pp. 457-468
-
-
Temple, I.K.1
Thompson, E.M.2
Hall, C.M.3
Bridgeman, G.4
Pembrey, M.E.5
|